Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

Inherited platelet disorders are a heterogeneous group of rare diseases, caused by inherited defects in platelet production and/or function. Their genetic diagnosis would benefit clinical care, prognosis and preventative treatments. Until recently, this diagnosis has usually been performed via Sange...

Full description

Bibliographic Details
Main Authors: José M. Bastida, María L. Lozano, Rocío Benito, Kamila Janusz, Verónica Palma-Barqueros, Mónica Del Rey, Jesús M. Hernández-Sánchez, Susana Riesco, Nuria Bermejo, Hermenegildo González-García, Agustín Rodriguez-Alén, Carlos Aguilar, Teresa Sevivas, María F. López-Fernández, Anna E. Marneth, Bert A. van der Reijden, Neil V. Morgan, Steve P. Watson, Vicente Vicente, Jesús M. Hernández-Rivas, José Rivera, José R. González-Porras
Format: Article
Language:English
Published: Ferrata Storti Foundation 2018-01-01
Series:Haematologica
Online Access:https://haematologica.org/article/view/8313

Internet

https://haematologica.org/article/view/8313

Similar Items